| 1 | Am. J. Med. Genet. B Neuropsychiatr. Genet. 2007 Apr 144B: 347-50 |
|---|---|
| PMID | 17066477 |
| Title | Homozygosity of the interleukin-10 receptor 1 G330R allele is associated with schizophrenia. |
| Abstract | 来历不明的感染和免疫的改变response have been hypothesized to play a role in the pathogenesis of精神分裂症。我们先前已经鉴定出IL-10受体1（IL-10R1）的两个单核苷酸多态性（SNP），从而导致甘氨酸330替代精氨酸（G330R）和丝氨酸138替代甘氨酸（S138G）。这些IL-10R1变体与精神分裂症在本研究中已经进行了研究。101例DSM-III-R（精神障碍诊断和统计手册）的101名无关的奥地利患者的DNA共识诊断精神分裂症(n = 70) or schizoaffective disorder (n = 31) and DNA of 121 German精神分裂症patients (DSM-III-R) was analyzed for the presence of S138G and G330R by allele-specific multiplex PCRs. Data from patients were compared with 250 unrelated, psychiatric healthy controls. No difference in allele frequency was detected between patients and controls (G330R: 34.0% vs. 30.0%, P = 0.208; S138G: 19.7% vs. 16.6%, P = 0.235; by Fisher's exact test). However, there was a significant difference in genotype distribution (wt/wt, wt/mut，，，，mut/mut) for G330R between patients (46.8%, 38.3%, 14.9%) and controls (47.6%, 44.8%, 7.6%; Fisher's test P = 0.032). No such difference was seen for S138G. Our results suggest that homozygosity of the IL-10R1 G330R allele is associated with精神分裂症并可能有助于易感个体中疾病表型的表达。 |
| SCZ Keywords | 精神分裂症，，，，精神分裂症 |
| 2 | Am. J. Med. Genet. B Neuropsychiatr. Genet. 2007 Apr 144B: 347-50 |
| PMID | 17066477 |
| Title | Homozygosity of the interleukin-10 receptor 1 G330R allele is associated with schizophrenia. |
| Abstract | 来历不明的感染和免疫的改变response have been hypothesized to play a role in the pathogenesis of精神分裂症。我们先前已经鉴定出IL-10受体1（IL-10R1）的两个单核苷酸多态性（SNP），从而导致甘氨酸330替代精氨酸（G330R）和丝氨酸138替代甘氨酸（S138G）。这些IL-10R1变体与精神分裂症在本研究中已经进行了研究。101例DSM-III-R（精神障碍诊断和统计手册）的101名无关的奥地利患者的DNA共识诊断精神分裂症(n = 70) or schizoaffective disorder (n = 31) and DNA of 121 German精神分裂症patients (DSM-III-R) was analyzed for the presence of S138G and G330R by allele-specific multiplex PCRs. Data from patients were compared with 250 unrelated, psychiatric healthy controls. No difference in allele frequency was detected between patients and controls (G330R: 34.0% vs. 30.0%, P = 0.208; S138G: 19.7% vs. 16.6%, P = 0.235; by Fisher's exact test). However, there was a significant difference in genotype distribution (wt/wt, wt/mut，，，，mut/mut) for G330R between patients (46.8%, 38.3%, 14.9%) and controls (47.6%, 44.8%, 7.6%; Fisher's test P = 0.032). No such difference was seen for S138G. Our results suggest that homozygosity of the IL-10R1 G330R allele is associated with精神分裂症并可能有助于易感个体中疾病表型的表达。 |
| SCZ Keywords | 精神分裂症，，，，精神分裂症 |
| 3 | 欧元。J. Clin。Pharmacol。2010年11月66日：1109-17 |
| PMID | 20563569 |
| Title | The role of CYP2D6 and ABCB1 pharmacogenetics in drug-na�ve patients with first-episode schizophrenia treated with risperidone. |
| Abstract | 评估细胞色素450 2d6（CYP2D6）和ABCB1变体对血浆利培酮浓度和治疗反应的作用，在83名毒品患者中，经历了第一集的精神病。 所有患者均用利培酮治疗8周。CYP2D6基因分型通过等位基因特异性PCR限制片段长度多态性分析（对于等位基因 *3， *4， *6）和长距离PCR（用于重复和等位基因 *5），而实时PCR分析使用对于ABCB1 G2677T/A和C3435T变体。利培酮和9-OH利培酮的血浆浓度通过高性能液相色谱法测量。 CYP2D6野生型（WT）/WT的患者人数，WT/mutaton（mut） 和mut/mut基因型分别为43、32和8。ABCB1 2677g/g，g/t和t/t变体的患者人数分别为29、42和12；具有3435cc，C/T和T/T变体的人分别为25、37和21。CYP2D6基因型对利培酮，其9-OH代谢物和活性部分的稳态剂量校正的等离子体水平（C/D）具有很强的影响，而ABCB1 2677 T/T和3435 T/T/T/T基因型具有相似的对主动部分C/D的强烈影响。CYP2D6较差的代谢剂具有明显更高的利培酮C/D和活性部分C/D和较低的9-OH利培酮C/D。ABCB1 3435 T等位基因和ABCB1 2667 T-3435 T单倍型载体在没有锥体外综合征的受试者中更加频繁。患者在正症状和一般症状方面表现出显着改善，但在阴性症状上没有显示出显着改善。这些变化与遗传和药物浓度数据的变化无关。 我们的发现表明，CYP2D6和ABCB1 G2677T和C3435T可能是利培酮血浆浓度的有用决定因素，但是这些关联在与治疗反应和副作用有关的临床意义仍然不清楚。 |
| SCZ Keywords | 精神分裂症，，，，精神分裂症 |
| 4 | 神经生物醇。dis。2015年4月76日：137-58 |
| PMID | 25684539 |
| Title | Motor and behavioral phenotype in conditional mutants with targeted ablation of cortical D1 dopamine receptor-expressing cells. |
| Abstract | D1多巴胺受体（DRD1A）在大脑皮层和纹状体的深层中高度表达。许多人类疾病，例如亨廷顿疾病和精神分裂症已知具有涉及多巴胺受体表达神经元的皮质病理学。为了阐明它们的功能作用，我们利用了Cre/Lox分子范式生成EMX-1（TOX）mutmice, a transgenic line in which cortical Drd1a-expressing pyramidal neurons were selectively ablated. Emx-1(tox)mut在社交相互作用的测试中，小鼠表现出突出的前肢肌张力障碍，高毛，旋风测试中的共济失调，焦虑般的行为增强以及年龄依赖性异常。后者发生在Y迷宫中测试和新颖对象识别的正常工作记忆的背景下。EMX-1（TOX）中的某些运动和行为异常mut与camkii中的老鼠重叠？（tox）mut转基因小鼠，其中融入了纹状体和皮质DRD1A细胞的线。虽然EMX-1（TOX）mutmice had normal striatal anatomy, both Emx-1(tox)mut和camkii？（tox）mutmice displayed selective neuronal loss in cortical layers V and VI. This study shows that loss of cortical Drd1a-expressing cells is sufficient to produce deficits in multiple motor and behavioral domains, independent of striatal mechanisms. Primary cortical changes in the D1 dopamine receptor compartment are therefore likely to model a number of core clinical features in disorders such as Huntington disease and精神分裂症。 |
| SCZ Keywords | 精神分裂症，，，，精神分裂症 |
| 5 | 生物化学。生物。res。社区。2015年8月463日：999-1005 |
| PMID | 26072378 |
| Title | Potential involvement of kinesin-1 in the regulation of subcellular localization of Girdin. |
| Abstract | 吉尔丁是一种肌动蛋白结合蛋白，在产后神经发育和癌症进展中具有多种功能。我们先前表明，吉尔丁是从脑室下区（SVZ）和产后大脑中海马的齿状回的神经干细胞（SVZ）的神经干细胞迁移的调节剂。尽管越来越多的木素相互作用蛋白清单，但吉尔丁介导的迁移的机制尚未得到充分阐明。吉尔丁与中断的相互作用精神分裂症1和分区缺陷3，两者均证明与动力蛋白微管运动蛋白相互作用。基于此，我们已经确定吉尔丁还与神经元驱动蛋白的成员驱动蛋白-1相互作用。尽管尚未确定吉尔丁和驱动蛋白-1的直接相互作用，但感兴趣的是发现吉尔丁功能丧失mut蚂蚁小鼠与mut碱性氨基酸残基富含区域的占地（碱性mutmice) exhibit limited interaction with kinesin-1. Furthermore, expression of a kinesin-1mut蚂蚁患有运动缺陷，导致吉尔丁错误定位。最后，与先前关于驱动蛋白在运输细胞 - 细胞粘附分子N-钙粘着蛋白的作用的研究一致，碱性mutmice showed an aberrant expression pattern of N-cadherin in migrating SVZ neuroblasts. These findings suggest a potential role of Girdin/kinesin-1 interaction in the regulation of neuroblast migration in the postnatal brain. |
| SCZ Keywords | 精神分裂症，，，，精神分裂症 |